Search Results - "Jordi Diaz-Manera"

Skeletal muscle magnetic resonance imaging in Pompe disease by Díaz‐Manera, Jordi, Walter, Glenn, Straub, Volker

“…Pompe disease is characterized by a deficiency of acid alpha‐glucosidase that results in muscle weakness and a variable degree of disability. There is an…”
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Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B by Hogarth, Marshall W., Defour, Aurelia, Lazarski, Christopher, Gallardo, Eduard, Diaz Manera, Jordi, Partridge, Terence A., Nagaraju, Kanneboyina, Jaiswal, Jyoti K.

“…Muscle loss due to fibrotic or adipogenic replacement of myofibers is common in muscle diseases and muscle-resident fibro/adipogenic precursors (FAPs) are…”
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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy by Vissing, John, Johnson, Katherine, Töpf, Ana, Nafissi, Shahriar, Díaz‐Manera, Jordi, French, Vanessa M., Schindler, Roland F., Sarathchandra, Padmini, Løkken, Nicoline, Rinné, Susanne, Freund, Max, Decher, Niels, Müller, Thomas, Duno, Morten, Krag, Thomas, Brand, Thomas, Straub, Volker

“…Objective The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric…”
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Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy by Querol, Luis, Nogales-Gadea, Gisela, Rojas-Garcia, Ricard, Martinez-Hernandez, Eugenia, Diaz-Manera, Jordi, Suárez-Calvet, Xavier, Navas, Miquel, Araque, Josefa, Gallardo, Eduard, Isabel Illa

“…Objective Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a frequent autoimmune neuropathy with a heterogeneous clinical spectrum. Clinical…”
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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation by Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo

“…Background and purpose Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component…”
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The increasing role of muscle MRI to monitor changes over time in untreated and treated muscle diseases by Nuñez-Peralta, Claudia, Alonso-Pérez, Jorge, Díaz-Manera, Jordi

“…This review aims to discuss the recent results of studies published applying quantitative MRI sequences to large cohorts of patients with neuromuscular…”
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Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials by Garibaldi, Matteo, Nicoletti, Tommaso, Bucci, Elisabetta, Fionda, Laura, Leonardi, Luca, Morino, Stefania, Tufano, Laura, Alfieri, Girolamo, Lauletta, Antonio, Merlonghi, Gioia, Perna, Alessia, Rossi, Salvatore, Ricci, Enzo, Alonso Perez, Jorge, Tartaglione, Tommaso, Petrucci, Antonio, Pennisi, Elena Maria, Salvetti, Marco, Cutter, Gary, Díaz‐Manera, Jordi, Silvestri, Gabriella, Antonini, Giovanni

“…Background Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the…”
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Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis by Suárez-Calvet, Xavier, Gallardo, Eduard, Nogales-Gadea, Gisela, Querol, Luis, Navas, Miquel, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel

“…We investigated the molecular mechanisms involved in the pathogenesis of three inflammatory myopathies, dermatomyositis (DM), polymyositis (PM) and inclusion…”
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Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL by Martel‐Duguech, Luciana, Alonso‐Jimenez, Alicia, Bascuñana, Helena, Díaz‐Manera, Jordi, Llauger, Jaume, Nuñez‐Peralta, Claudia, Montesinos, Paula, Webb, Susan M., Valassi, Elena

“…Background Cushing's syndrome (CS) is associated with skeletal muscle structural and functional impairment which may persist long‐term despite surgical removal…”
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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids by Schiava, Marianela, Lofra, Robert Muni, Bourke, John P., Díaz‐Manera, Jordi, James, Meredith K., Elseed, Maha A., Malinova, Monika, Michel‐Sodhi, Jassi, Moat, Dionne, Ghimenton, Elisabetta, Mccallum, Michelle, Díaz, Carla Florencia Bolaño, Mayhew, Anna, Wong, Karen, Richardson, Mark, Tasca, Giorgio, Eglon, Gail, Eagle, Michelle, Turner, Cathy, Heslop, Emma, Straub, Volker, Bettolo, Chiara Marini, Guglieri, Michela

“…Background and purpose The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This…”
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STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa by Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt

“…Background Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to…”
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Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E by Li, Chengcheng, Wilborn, Jackson, Pittman, Sara, Daw, Jil, Alonso-Pérez, Jorge, Díaz-Manera, Jordi, Weihl, Conrad C, Haller, Gabe

“…Genetic testing is essential for patients with a suspected hereditary myopathy. More than 50% of patients clinically diagnosed with a myopathy carry a variant…”
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Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy by Pascual-Goñi, Elba, Fehmi, Janev, Lleixà, Cinta, Martín-Aguilar, Lorena, Devaux, Jérôme, Höftberger, Romana, Delmont, Emilien, Doppler, Kathrin, Sommer, Claudia, Radunovic, Aleksandar, Carvajal, Alejandra, Smyth, Shane, Williams, Laura, Mazanec, Radim, Potočková, Veronika, Hinds, Nigel, Cassereau, Julien, Viala, Karine, Lefilliatre, Mathilde, Nicolas, Guillaume, Foley, Peter, Leypoldt, Frank, Keddie, Stephen, Lunn, Michael P, Zimprich, Fritz, Nunkoo, Vharoon Sharma, Löscher, Wolfgang N, Martínez-Martínez, Laura, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel, Rinaldi, Simon, Querol, Luis

“…Previous studies have described the clinical, serological and pathological features of patients with chronic inflammatory demyelinating polyradiculoneuropathy…”
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Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy by Piñol-Jurado, Patricia, Gallardo, Eduard, de Luna, Noemi, Suárez-Calvet, Xavier, Sánchez-Riera, Carles, Fernández-Simón, Esther, Gomis, Clara, Illa, Isabel, Díaz-Manera, Jordi

“…Duchenne muscular dystrophy (DMD) is characterized by a progressive loss of muscle fibers, and their substitution by fibrotic and adipose tissue. Many factors…”
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Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease by Boentert, Matthias, Berger, Kenneth I, Díaz-Manera, Jordi, Dimachkie, Mazen M, Hamed, Alaa, Riou França, Lionel, Thibault, Nathan, Shukla, Pragya, Ishak, Jack, Caro, J Jaime

“…Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many rare diseases,…”
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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain by Sivera, Rafael, Lupo, Vincenzo, Frasquet, Marina, Argente‐Escrig, Herminia, Alonso‐Pérez, Jorge, Díaz‐Manera, Jordi, Querol, Luis, Mar García‐Romero, María, Ignacio Pascual, Samuel, García‐Sobrino, Tania, Paradas, Carmen, Francisco Vázquez‐Costa, Juan, Muelas, Nuria, Millet, Elvira, Jesús Vílchez, Juan, Espinós, Carmen, Sevilla, Teresa

“…Background and purpose MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine…”
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Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands by Alonso‐Pérez, Jorge, de León Hernández, Juan Carlos, Pérez‐Pérez, Helena, Mendoza‐Grimón, María Dolores, Gutierrez‐Martinez, Antonio José, Hadjigeorgiou, Ioanna, Montón‐Álvarez, Fernando, González‐Quereda, Lidia, Alonso‐Jimenez, Alicia, Suárez‐Calvet, Xavier, Díaz‐Manera, Jordi

“…Background Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late‐onset myopathy characterized by ptosis, dysphagia, and progressive proximal…”
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High prevalence of paraspinal muscle involvement in adults with McArdle disease by Álvarez‐Velasco, Rodrigo, Nuñez‐Peralta, Claudia Alejandra, Alonso‐Pérez, Jorge, Gallardo, Eduard, Collet‐Vidiella, Roger, Reyes‐Leiva, David, Pascual‐Goñi, Elba, Martín‐Aguilar, Lorena, Caballero‐Ávila, Marta, Carbayo‐Viejo, Álvaro, Llauger‐Roselló, Jaume, Díaz‐Manera, Jordi, Olivé, Montse

“…Introduction/Aims Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been…”
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Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies by Suárez‐Calvet, Xavier, Fernández‐Simón, Esther, Piñol‐Jurado, Patricia, Alonso‐Pérez, Jorge, Carrasco‐Rozas, Ana, Lleixà, Cinta, López‐Fernández, Susana, Pons, Gemma, Soria, Laura, Bigot, Anne, Mouly, Vincent, Illa, Isabel, Gallardo, Eduard, Jaiswal, Jyoti K., Díaz‐Manera, Jordi

“…Skeletal muscle contains multiple cell types that work together to maintain tissue homeostasis. Among these, satellite cells (SC) and fibroadipogenic…”
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Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles by Nuñez‐Peralta, Claudia, Alonso‐Pérez, Jorge, Llauger, Jaume, Segovia, Sonia, Montesinos, Paula, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Alonso‐Jiménez, Alicia, Sánchez‐González, Javier, Martínez‐Noguera, Antonio, Illa, Isabel, Díaz‐Manera, Jordi

“…Background Late‐onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of…”
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